MCID: GNT033
MIFTS: 28

Genetic Prion Diseases malady

Genetic diseases (common) category

Aliases & Classifications for Genetic Prion Diseases

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Aliases & Descriptions for Genetic Prion Diseases:

Name: Genetic Prion Diseases 21 22 24
Transmissible Spongiform Encephalopathies 21 22 46 2
 
Prion Diseases 65
Tses 21


Classifications:



Summaries for Genetic Prion Diseases

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NINDS:46 Transmissible spongiform encephalopathies (TSEs), also known as prion diseases, are a group of rare degenerative brain disorders characterized by tiny holes that give the brain a "spongy" appearance. These holes can be seen when brain tissue is viewed under a microscope.

MalaCards based summary: Genetic Prion Diseases, also known as transmissible spongiform encephalopathies, is related to gerstmann-straussler disease and encephalopathy. An important gene associated with Genetic Prion Diseases is PRNP (Prion Protein), and among its related pathways is Neuroscience. Affiliated tissues include brain, and related mouse phenotypes are other and reproductive system.

CDC:2 Classic CJD is a human prion disease. It is a neurodegenerative disorder with characteristic clinical and diagnostic features. 

GeneReviews summary for prion

Related Diseases for Genetic Prion Diseases

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Diseases related to Genetic Prion Diseases via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 64)
idRelated DiseaseScoreTop Affiliating Genes
1gerstmann-straussler disease29.7APOE, HLA-DQB1, PRNP
2encephalopathy11.1
3prion disease10.7
4creutzfeldt-jakob disease10.7
5kuru10.5
6chronic wasting disease10.5
7gerstmann syndrome10.5
8neurologic diseases10.3
9wallerian degeneration10.3
10insomnia, fatal familial10.1
11cerebritis10.1
12scrapie10.1
13myocardial infarction10.0
14autoimmune disease 110.0
15hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia10.0
16muscle hypertrophy10.0
17autoimmune thyroid disease 210.0
18nasopharyngeal carcinoma 210.0
19autoimmune thyroid disease 110.0
20autoimmune disease 210.0
21autoimmune thyroid disease 310.0
22autoimmune disease 310.0
23ciliary dyskinesia, primary, 2710.0
24graves disease 110.0
25nasopharyngeal carcinoma10.0
26graves disease 210.0
27ciliary dyskinesia, primary, 2610.0
28huriez syndrome10.0
29acute myocardial infarction10.0
30joint disorders10.0
31malignant glioma10.0
32muscle disorders10.0
33graves' disease10.0
34exophthalmos10.0
35thyroid malformation10.0
36spiradenoma10.0
37autoimmune disease of endocrine system10.0
38blepharitis10.0
39chronic orbital inflammation10.0
40endocrine exophthalmos10.0
41eye disease10.0
42eyelid disease10.0
43globe disease10.0
44goiter10.0
45hypersensitivity reaction type ii disease10.0
46hyperthyroidism10.0
47hypothyroidism10.0
48muscle tissue disease10.0
49myopathy10.0
50non-suppurative otitis media10.0

Graphical network of the top 20 diseases related to Genetic Prion Diseases:



Diseases related to genetic prion diseases

Symptoms for Genetic Prion Diseases

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Drugs & Therapeutics for Genetic Prion Diseases

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Genetic Prion Diseases

Genetic Tests for Genetic Prion Diseases

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Genetic tests related to Genetic Prion Diseases:

id Genetic test Affiliating Genes
1 Genetic Prion Diseases22 24 PRNP

Anatomical Context for Genetic Prion Diseases

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MalaCards organs/tissues related to Genetic Prion Diseases:

33
Brain

Animal Models for Genetic Prion Diseases or affiliated genes

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MGI Mouse Phenotypes related to Genetic Prion Diseases:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053958.7APOE, PRNP
2MP:00053898.5APOE, HLA-DQB1, PRNP
3MP:00053698.4APOE, HLA-DQB1, PRNP

Publications for Genetic Prion Diseases

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Articles related to Genetic Prion Diseases:

(show all 20)
idTitleAuthorsYear
1
The Features of Genetic Prion Diseases Based on Chinese Surveillance Program. (26488179)
2015
2
Clinical findings and diagnosis in genetic prion diseases in Germany. (26076917)
2015
3
Correction: PrPST, a Soluble, Protease Resistant and Truncated PrP Form Features in the Pathogenesis of a Genetic Prion Disease. (26193641)
2015
4
Reduced cerebral blood flow in genetic prion disease with PRNP D178N-129M mutation: An arterial spin labeling MRI study. (25220284)
2014
5
Presence of voltage-gated potassium channel complex antibody in a case of genetic prion disease. (24903967)
2014
6
Reversible symptoms and clearance of mutant prion protein in an inducible model of a genetic prion disease in Drosophila melanogaster. (24686303)
2014
7
Ascertainment bias causes false signal of anticipation in genetic prion disease. (25279981)
2014
8
Genetic prion disease: no role for the immune system in disease pathogenesis? (25239861)
2014
9
PrP(ST), a soluble, protease resistant and truncated PrP form features in the pathogenesis of a genetic prion disease. (23922744)
2013
10
Epitope scanning indicates structural differences in brain-derived monomeric and aggregated mutant prion proteins related to genetic prion diseases. (23808898)
2013
11
Relationships between clinicopathological features and cerebrospinal fluid biomarkers in Japanese patients with genetic prion diseases. (23555862)
2013
12
Copper is toxic to PrP-ablated mice and exacerbates disease in a mouse model of E200K genetic prion disease. (22198568)
2012
13
Activation of the macroautophagic system in scrapie-infected experimental animals and human genetic prion diseases. (22874564)
2012
14
Genetic prion disease with codon 196 PRNP mutation: clinical and pathological findings. (21232818)
2011
15
Genetic prion disease-associated myelodysplasia and SIADH in siblings. (22097952)
2011
16
Comprehensive neuropathologic analysis of genetic prion disease associated with the E196K mutation in PRNP reveals phenotypic heterogeneity. (21293298)
2011
17
ApoE distribution and family history in genetic prion diseases in Germany. (18157657)
2008
18
Genetic prion disease: the EUROCJD experience. (16187142)
2005
19
Transmissible and genetic prion diseases share a common pathway of neurodegeneration. (10617204)
1999
20
Genetic Prion Diseases (20301407)
1993

Variations for Genetic Prion Diseases

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Clinvar genetic disease variations for Genetic Prion Diseases:

5 (show all 19)
id Gene Variation Type Significance SNP ID Assembly Location
1PRNPNM_000311.3(PRNP)NT expansionPathogenicrs193922906GRCh37Chr 20, 4680026: 4680049
2PRNPNM_000311.3(PRNP): c.305C> T (p.Pro102Leu)single nucleotide variantPathogenicrs74315401GRCh37Chr 20, 4680171: 4680171
3PRNPNM_000311.3(PRNP): c.350C> T (p.Ala117Val)single nucleotide variantPathogenicrs74315402GRCh37Chr 20, 4680216: 4680216
4PRNPNM_000311.3(PRNP): c.598G> A (p.Glu200Lys)single nucleotide variantPathogenicrs28933385GRCh37Chr 20, 4680464: 4680464
5PRNPNM_000311.3(PRNP): c.532G> A (p.Asp178Asn)single nucleotide variantPathogenicrs74315403GRCh37Chr 20, 4680398: 4680398
6PRNPNM_000311.3(PRNP): c.593T> C (p.Phe198Ser)single nucleotide variantPathogenicrs74315405GRCh37Chr 20, 4680459: 4680459
7PRNPNM_000311.3(PRNP): c.650A> G (p.Gln217Arg)single nucleotide variantPathogenicrs74315406GRCh37Chr 20, 4680516: 4680516
8PRNPNM_000311.3(PRNP): c.628G> A (p.Val210Ile)single nucleotide variantPathogenicrs74315407GRCh37Chr 20, 4680494: 4680494
9PRNPNM_000311.3(PRNP): c.314C> T (p.Pro105Leu)single nucleotide variantPathogenicrs11538758GRCh37Chr 20, 4680180: 4680180
10PRNPNM_000311.3(PRNP): c.538G> A (p.Val180Ile)single nucleotide variantPathogenicrs74315408GRCh37Chr 20, 4680404: 4680404
11PRNPNM_000311.3(PRNP): c.695T> G (p.Met232Arg)single nucleotide variantPathogenicrs74315409GRCh37Chr 20, 4680561: 4680561
12PRNPNM_000311.3(PRNP): c.547A> G (p.Thr183Ala)single nucleotide variantPathogenicrs74315411GRCh37Chr 20, 4680413: 4680413
13PRNPNM_000311.3(PRNP): c.623G> A (p.Arg208His)single nucleotide variantPathogenicrs74315412GRCh37Chr 20, 4680489: 4680489
14PRNPNM_000311.3(PRNP): c.560A> G (p.His187Arg)single nucleotide variantPathogenicrs74315413GRCh37Chr 20, 4680426: 4680426
15PRNPNM_000311.3(PRNP): c.313C> A (p.Pro105Thr)single nucleotide variantPathogenicrs74315414GRCh37Chr 20, 4680179: 4680179
16PRNPNM_000311.3(PRNP): c.313C> T (p.Pro105Ser)single nucleotide variantPathogenicrs74315414GRCh37Chr 20, 4680179: 4680179
17PRNPNM_000311.3(PRNP): c.435T> G (p.Tyr145Ter)single nucleotide variantPathogenicrs80356710GRCh37Chr 20, 4680301: 4680301
18PRNPNM_000311.3(PRNP): c.478C> T (p.Gln160Ter)single nucleotide variantPathogenicrs80356711GRCh37Chr 20, 4680344: 4680344
19PRNPNM_000311.3(PRNP): c.532G> A (p.Asp178Asn)single nucleotide variantPathogenicrs74315403GRCh37Chr 20, 4680398: 4680398

Expression for genes affiliated with Genetic Prion Diseases

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Search GEO for disease gene expression data for Genetic Prion Diseases.

Pathways for genes affiliated with Genetic Prion Diseases

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Pathways related to Genetic Prion Diseases according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.0APOE, PRNP

GO Terms for genes affiliated with Genetic Prion Diseases

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Biological processes related to Genetic Prion Diseases according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1response to oxidative stressGO:00069799.0APOE, PRNP

Sources for Genetic Prion Diseases

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet